Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

Abstract Objective To summarize and extend the phenotypic characterization of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome, and to discuss genotype-phenotype correlations. Methods Collecting clinical information of 17 patients with pathogenic variants in PIGN, PIGA, and PIGT. Genetic st...

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Bibliographic Details
Main Authors: Xianru Jiao, Jiao Xue, Pan Gong, Xinhua Bao, Ye Wu, Yuehua Zhang, Yuwu Jiang, Zhixian Yang
Format: Article
Language:English
Published: BMC 2020-03-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Glycosylphosphatidylinositol anchor
Epilepsy
Hypotonia
Developmental delay
Dysmorphism
Online Access:http://link.springer.com/article/10.1186/s13023-020-01365-0

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